Percorrer por autor Santos, Rosário

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DataTítuloAutor(es)TipoAcesso
22-Nov-2012Desenvolvimento Neuropsicológico na Síndrome de X-Frágil: interpretar os perfis de desenvolvimento.Carmona, Carla; Marques, Isabel; Santos, Rosário; Jorge, PaulaconferenceObjectrestrictedAccess
Nov-2010Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange SyndromeOliveira, Jorge; Dias, Cristina; Redeker, Egbert; Costa, Eurico; Silva, João; Lima, Margarida Reis; Den Dunnen, Johan T.; Santos, RosárioarticlerestrictedAccess
Mai-2012Distrofias Musculares das Cinturas autossómicas recessivas diagnosticadas nos Hospitais da Universidade de CoimbraNegrão, Luis; Geraldo, Argemiro; Rebelo, Olinda; Matos, Anabela; Santos, Rosário; Bronze-da-Rocha, ElsaarticleopenAccess
Jul-2011Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptomsDuarte, Sofia; Oliveira, Jorge; Santos, Rosário; Pereira, Pedro; Barroso, Cândida; Conceição, Isabel; Evangelista, TeresinhaarticlerestrictedAccess
Nov-2011Evaluating the influence of four variants detected in the FRAXA and FRAXE lociMarques, Isabel; Jorge, Paula; Loureiro, Joana; Santos, RosárioconferenceObjectopenAccess
12-Set-2012Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific databaseOliveira, Jorge; Oliveira, Márcia E.; Kress, Wolfram; Taipa, Ricardo; Melo Pires, Manuel; Hilbert, Pascale; Baxter, Peter; Santos, Manuela; Buermans, Henk; den Dunnen, Johan; Santos, RosárioarticlerestrictedAccess
2011Expanding the mutation spectrum of the MTM1 gene: the first multi-exonic duplication and establishment of the MTM1 locus-specific databaseOliveira, Jorge; Oliveira, Márcia E.; Brekelmans, Roel; Melo-Pires, Manuel; Guimarães, António; den Dunnen, Johan; Santos, Manuela; Santos, RosárioconferenceObjectopenAccess
Set-2011FMR1 premutations may be associated with a wider spectrum of phenotypesSeixas, Ana; Vale, José; Martins, Márcia; Loureiro, Joana; Jorge, Paula; Maques, Isabel; Santos, Rosário; Coutinho, Paula; Margolis, Russell; Sequeiros, Jorge; Silveira, IsabelotheropenAccess
23-Mai-2012Fragile X mental retardation 1 (FMR1) premutations: instability and associated phenotypesLoureiro, Joana; Jorge, Paula; Marques, Isabel; Santos, Rosário; Seixas, Ana; Martins, Márcia; Vale, José; Sequeiros, Jorge; Silveira, IsabelconferenceObjectrestrictedAccess
10-Mai-2012Fragile X mental retardation 1 (FMR1) premutations: instability and associated phenotypesLoureiro, Joana; Jorge, Paula; Marques, Isabel; Santos, Rosário; Seixas, Ana; Martins, Márcia; Vale, José; Sequeiros, Jorge; Silveira, IsabelconferenceObjectrestrictedAccess
Dez-2010Fragile X Mental Retardation Protein: broadening the possibilities for studying Fragile X SyndromeOliveira, Bárbara; Marques, Isabel; Loureiro, Joana; Santos, Rosário; Jorge, PaulaconferenceObjectopenAccess
Dez-2010Fragile X Syndrome: Genetic BackgroudsLoureiro, Joana; Marques, Isabel; Oliveira, Bárbara; Amorim, António; Santos, Rosário; Jorge, PaulaconferenceObjectopenAccess
22-Nov-2012Fragile X syndrome: intergenerational allele instability and associated phenotypes in familiesJoana, Loureiro; Marques, Isabel; Santos, Rosário; Seixas, Ana; Martins, Márcia; Vale, José; Sequeiros, Jorge; Silveira, IsabelconferenceObjectopenAccess
6-Nov-2012FRAXE molecular diagnosis in individuals referred for FRAXA screeningAli, Javed; Ali, G.; Caicedo, Lina; Marques, Isabel; Santos, Rosário; Jorge, PaulaconferenceObjectopenAccess
22-Nov-2012FRAXE molecular diagnosis in individuals referred for FRAXA screeningJaved, Ali; G., Ali; Caicedo, Lina; Marques, Isabel; Santos, Rosário; Jorge, PaulaconferenceObjectrestrictedAccess
23-Jun-2012Further contributions towards the molecular analysis of NIPBL and SMC1A genes in a cohort of patients with Cornelia de Lange SyndromePinto da Costa, Eurico; Oliveira, Jorge; Silva, João; Santos, RosárioconferenceObjectopenAccess
Jun-2011FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypesSeixas, Ana; Vale, José; Jorge, Paula; Marques, Isabel; Santos, Rosário; Alonso, Isabel; Fortuna, Ana; Pinto-Basto, Jorge; Coutinho, Paula; Margolis, Russell; Sequeiros, Jorge; Silveira, IsabelarticleopenAccess
2011Migration of an ancestral dysferlin splicing mutation from the Iberian peninsula to South AmericaVernengo, Luis; Oliveira, Jorge; Krahn, Martin; Vieira, Emília; Santos, Rosário; Carraso, Luisa; Negrão, Luis; Panuncio, Ana; Leturcq, France; Labelle, Veronique; Bronze-da-Rocha, Elsa; Mesa, Rosario; Pizzarossa, Carlos; Lévy, Nicolas; Rodrigues, Maria-MirtaconferenceObjectopenAccess
Set-2011Molecular profile of 307 Portuguese patients with dystrophinopathy, including thirty-nine new variantsGonçalves, Ana Rita; Santos, Rosário; Vieira, Emília; Vieira, José Pedro; Fineza, Isabel; Moreno, Teresa; Santos, Manuela; Bronze-da-Rocha, ElsaconferenceObjectopenAccess
Set-2011A multiplex assay for X-linked intellectual disability assessmentJorge, Paula; Marques, Isabel; Oliveira, Bárbara; Santos, RosárioconferenceObjectopenAccess